ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1848G>A (p.Pro616=)

gnomAD frequency: 0.00006  dbSNP: rs145264023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184749 SCV001350808 likely benign Familial hypercholesterolemia 2018-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001460316 SCV001664181 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411699 SCV002715147 likely benign Cardiovascular phenotype 2022-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001460316 SCV004846535 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-01 criteria provided, single submitter clinical testing

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